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Shwachman-diamond syndrome: A case report.
Huihan Tan1, Dequan Su1, Zhiqiang Zhuo2
1Xiamen Children's Hospital.
Medicine
|February 20, 2021
Summary
Genetic testing identified novel mutations in Shwachman-Diamond syndrome (SDS), a rare disorder. Treatment improved liver function and stool abnormalities in a pediatric patient.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder.
- Characterized by pancreatic exocrine dysfunction, bone marrow abnormalities, and skeletal defects.
- Genetic analysis is crucial for accurate diagnosis and understanding disease mechanisms.
Observation:
- A 5-month-old Chinese infant presented with elevated transaminases, growth restriction, and steatorrhea.
- Novel heterozygous mutations (sbdsc.258 +2T>C and c.184a>T) were identified in the patient and parents.
- The patient received symptomatic treatment including nutritional support and medications.
Findings:
- Treatment led to improvement in stool consistency and a decrease in liver transaminase levels.
- Genetic sequencing confirmed compound heterozygous mutations, aiding in the diagnosis of SDS.
- This case highlights the diverse clinical spectrum of SDS.
Implications:
- Early diagnosis of SDS through genetic testing is vital for timely intervention.
- Understanding novel mutations can expand the genotypic spectrum of SDS.
- Multidisciplinary management is essential for improving outcomes in SDS patients.
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